Biochem: Diseases Flashcards by Jasper Viloria

Amino Acid Metabolism
No cystathionine synthase
Myocardial infarction, lens dislocation, osteoperosis

Homocystinuria

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Amino Acid Metabolism
No homogentisate oxidase
Arthritis, black onchronotic pigments in cartilage, urine
Tx low protein diet

Alkaptonuria

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Amino Acid Metabolism
High levels of valine, leucine and isoleucine in blood
Neuro problems, METAB acidosis
Tx with diet restriction, some with thiamin

MSUD

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Amino Acid Metabolism

THE MOST COMMON CLINICALLY ENCOUNTERED INBORN ERROR OF AMINO ACID METAB

PKU

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Amino Acid Metabolism
Dihydrobiopterine reductase deficiency
Mousey odor, hypopigmentation
Tx with diet restriction, supplement with BH4

PKU

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Heme Metabolism

Differentiate Acute Intermittent Porphyria from Porphyria Cutanea Tarda

No photo sensitivity in PCT
Urine turns dark on sunlight with AIP
AIP: Uroporphyrinogen I synthase
PCTL Uroporphyrinogen III decarboxylase

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Heme Metabolism

IV drug to alleviate acute porphyria attacks

Hemin

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Heme Metabolism

Rate controlling step in synthesis

Formation of ALA from glycine and Succinyl-CoA via the ALA synthase enzyme (requiring B6 as a co-factor)

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Heme Metabolism

2 enzymes inhibited by Lead

Ala synthase and ferrochelataas (for iron incorporation)

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Nucleotide Metabolism
No HGPRT
EXCESS uric acid, gout
Involuntary movt disorders

Lesch-Nyhan syndrome also with self mutilation

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Nucleotide Metabolism

Which nucleic acids lead to gout?

Purines only (Adenine and Guanine)

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Nucleotide Metabolism
Large buildups of dATP
Die before 2 years of age
Lack of T and B cells

ADA deficiency which also leads to SCID.

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Electron Transport Chain
What is inhibited by:
Cyanide
Carbon monoxide 
Na azide
Hydrogen sulfide

Cytochrome oxidase

Complex 4

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Electron Transport Chain
What is inhibited by:
Dimercaprol
Antimycin a

Complex III: ubiquinone ferricytochrome

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Electron Transport Chain
What is inhibited by:
Carboxin
Malonate
TTFA

Complex II: Succinate dehydrogenase

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Electron Transport Chain
What is inhibited by:
Barbiturate
Amytal
Piercedin 
Roten
Piercidin A

Complex I: NADH Dehydrogenase

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Electron Transport Chain
What is inhibited by:
MELAS

Complex 1 NADH dehydrogenase

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Electron Transport Chain
What is inhibited by:
Leigh disease

Complex 4 cytochrome oxidase

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Electron Transport Chain
What is inhibited by:
Leber’s disease

Complex 3 ubiquinol ferricytochrome oxidase

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Glycogen Storage Diseases
Hypoglycemia and lactic acidosis
Glycogen trapped in liver
(-) glucose 6 phosphatase

I: Von gierke

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Glycogen Storage Diseases
Glycogen in lysosomes
Cardiomegaly and heart failure
(-) a-1,4 glucosidase (acid maltase)

II: Pompe

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Glycogen Storage Diseases
Benign form of Von Gierke
(-) a-1,6 glucosidase (debranching enzyme)

III: Cori’s

IV: Andersen’s is the SEVERE form of 1 with NO branching enzyme

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Glycogen Storage Diseases
Muscle cramps
MYOGLOBINURIA WITHOUT LACTIC ACIDOSIS
(-) skeletal muscle glycogen phosphorylase / myophosphorylase

V: McArdle

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Glycogen Storage Diseases

McArdle twin with hemolytic anemia

Type 7 Tarui

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Carbohydrate Metabolism | What enzymes are missing in Classic Galactosemia and Fructose intolerance?

Classic Galactosemia: Gal 1 phosphate uridyltransferase | Fructose Intolerance: Aldolase B

Fatty Acid Oxidation Hypoglycemia SIDS Tx IV glucose

Medium chain fatty acyl coa dehydrogenase

Fatty Acid Oxidation Akee tree, hypoglycin Hypoglycemia

Jamaican vomiting sickness

Fatty Acid Oxidation Phytanic acid buildup Block beta oxidation NEURO sxs sec to improper myelinization

Refsum's disease

Fatty Acid Oxidation Cerebrohepatorenal syndrome NO peroxisomes to degrade VLCFA

Zellweger's syndrome

Fatty Acid Oxidation DEFECTIVE peroxisomes unable to degrade VLCFA Adrenal insufficiency

X linked adrenoleukodystrophy

Dyslipidemias NO app B48 and B100 Intestinal malabsorption, steatorrhea Acanthosis

Abetalipoproteinemia

Dyslipidemias INCREASED VLDL CAD, DM T2, Obesity

T4 familial hypertriglyceridemia

Dyslipidemias INCREASED RISK FOR ATHEROSCLEROSIS AND CAD NO apo E Aka Remnant removal disease

T3 familial dysbetalipoprotenemia

Dyslipidemias INCREASED RISK FOR ATHEROSCLEROSIS AND CAD xanthomas NO LDL receptors

T2 Familial hypercholesterolemia

Dyslipidemias NO INCREASED RISK FOR ATHEROSCLEROSIS AND CAD xanthomas pancreatitis NO lipoprotein lipase

Type 1 familial lipoprotein lipase

Dyslipidemias NO Apo a1 (lack of ABC1 cholesterol transporter gene) = Cholesterol accumulates within the cells Pathognomonic orange tonsils HIGH TG

Tangier's/ fisheye disease

Sphingolipidoses Hepatosplenomegaly with erosion of long bones No B-glucosidase

Gaucher's disease

Sphingolipidoses Hepatosplenomegaly Increased sphingomyelin

Niemann-Pick disease

``` Sphingolipidoses Increase GM2 ganglioside No hexaminidaae A Cherry red macula MR hypotonia ```

Tay Sach's disease

Sphingolipidoses Rash Renal failure No alpha galactosidase

Fabry's disease Only X-linked recessive others autosomal

``` Sphingolipidoses Skin rash Hoarseness Bone malformation NO ceramidase ```

Farber's dz

``` GAGS Corneal clouding Cardiomyopathy MR w/ gargoylism Onset age: 1, Death by age: 14 ```

Type 1 Hurler's syndrome

GAGS NO corneal clouding Cardiomyopathy MR

Type 2 HUNTER's syndrome The only one X linked recessive Others are all autosomal recessive

GAGS NO MR Skeletal dysplasia with short stature Death due to atlanto-axial instability

Type 4 Morquio's syndrome The ONLY ONE WITHOUT MR!

``` GAGS Spasticity then loss of motor fxn MR Hyperactivity Loss of heparan sulfatase ```

Type 3 Sanflippo syndrome

Genetics What is the usual genetic problem in enzyme defects? Structural protein defects?

Recessive (x linked or autosomal) | Dominant

Genetics | Name common dzs with x linked inheritance

``` Duchenne muscular dystrophy Hemophilia A and B Chronic granulomatous dz G6PD Deficiency Agammaglobulinemia Wiskott Aldrich DI Lesch-Nyhan Fragile X Color blindness ```

``` Collagen Which type is defective in osteogenesis imperfecta? Late wound repair Cornea Fascia Dentin Bone ```

ETC | Complex 5 is inhibited by?

Oligomycin

``` Collagen Which type is defective in ehler danlos? Granulation tissue Fetal tissue Uterus Skin Blood vessels ```

3 Type 2: cartilage, vitreous body, nucleus pulposus

Collagen Which type is defective in alport syndrome? Basement membrane

BLOOD | What characteristic morphology is present in patients with G6PD deficiency?

Bite cells and Heinz bodies

DNA Repair Mechanisms Ineffective Nucleotide Excision Repair - bulky thymine dimers cannot tolerate sunlight at risk for malignant melanoma, SCCA, BCCA, and fibrosarcoma

Xeroderma pigmentosum Tx: 5-FU, Imiquimod

DNA Repair Mechanisms DNA repair defect + Bone marrow failure Cafe-au-lait spots Susceptible to free radical damage

Fanconi Anemia

DNA Repair Mechanisms Nucleotide excision repair defect, no risk for skin malignancies Birdlike facies and dwarfism Accelerated aging of cells

Cockayne syndrome

DNA Repair Mechanisms Unstable genome Progressive neurologic dysfunction, ataxia, sinopulmonary infections, telangiectasia

Ataxia-Telangiectasia

``` DNA Repair Mechanisms Mismatch DNA repair defect Prone to microsatellite instability 80% chance for Colon cancer 30-50% chance for type 3 Endometrial Cancer ```

HNPCC (Lynch syndrome)

DNA Repair Mechanisms Higher frequency of p53 mutations Disposition toward serous adenocarcinomas 60-80% Breast cancer risk Risk for prostate, ovarian, and pancreatic CA

Hereditary Breast Cancer (BRCA1 or BRCA2)

DNA Repair Mechanisms Helicase defect = genomic instability Growth delay, increased risk of various malignancies by 300 fold, telangiectatic erythema

Bloom Syndrome

DNA Repair Mechanisms Helicase defect Scleroderma like skin, muscle atrophy, wrinkling of face, cataracts, osteoporosis. aka Progeria of the Adult

Werner Syndrome

Collagen Diseases Vit. C deficiency weakening of the capillaries

Scurvy

``` Collagen diseases Brittle bones Blue sclerae Hearing loss Dental imperfections ```

Osteogenesis Imperfecta

Amino Acid Metabolism | Deficiency in tyrosinase

Albinism

Bilirubinemias | Defect in bilirubin-UGT

Criggler-Najar Type 1

Nucleotide Synthesis Megaloblastic anemia, failure to thrive, (-) hyperamonemia Tx: Oral uridine administration

Orotic aciduria

Chronic granulomatous disease is due to deficiency in?

NADPH oxidase Molecular oxygen NOT converted to superoxide in leukocytes